ClinVar Miner

Submissions for variant NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter)

gnomAD frequency: 0.00001  dbSNP: rs746509804
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712086 SCV000842504 pathogenic not provided 2017-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000712086 SCV001801579 likely pathogenic not provided 2020-06-22 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 84 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV001784350 SCV002806516 likely pathogenic Bartter disease type 2 2024-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000712086 SCV003023055 pathogenic not provided 2025-01-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys308*) in the KCNJ1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 84 amino acid(s) of the KCNJ1 protein. This variant is present in population databases (rs746509804, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with KCNJ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 586076). This variant disrupts a region of the KCNJ1 protein in which other variant(s) (p.His354Serfs*8) have been determined to be pathogenic (PMID: 11318951). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Daryl Scott Lab, Baylor College of Medicine RCV001784350 SCV005871216 pathogenic Bartter disease type 2 2024-01-01 criteria provided, single submitter clinical testing PVS1

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